Resultats de la cerca - Christine Barnérias

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  1. 1
    Pyruvate dehydrogenase complex deficiency: four neurological phenotypes with differing pathogenesis

    Pyruvate dehydrogenase complex deficiency: four neurological phenotypes with differing pathogenesis per Christine Barnérias, Jean‐Marie Saudubray, Guy Touati, Pascale de Lonlay, Olivier Dulac, G Ponsot, C. Marsac, M. Brivet, Isabelle Desguerre

    Publicat 2009
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  2. 2
    Epilepsy in Menkes Disease: Analysis of Clinical Stages

    Epilepsy in Menkes Disease: Analysis of Clinical Stages per Nadia Bahi‐Buisson, Anna Kaminśka, Rima Nabbout, Christine Barnérias, Isabelle Desguerre, Pascale de Lonlay, M. Mayer, Perrine Plouin, Olivier Dulac, Catherine Chiron

    Publicat 2006
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  3. 3
    Safety and Efficacy of Rituximab in Severe Juvenile Dermatomyositis: Results from 9 Patients from the French Autoimmunity and Rituximab Registry

    Safety and Efficacy of Rituximab in Severe Juvenile Dermatomyositis: Results from 9 Patients from the French Autoimmunity and Rituximab Registry per Brigitte Bader‐Meunier, Hélène Decaluwe, Christine Barnérias, Romain K. Gherardi, Pierre Quartier, Albert Faye, Vincent Guigonis, Anne Pagnier, Karine Brochard, Jean Sibilia, Jacques‐Eric Gottenberg, Christine Bodemer

    Publicat 2011
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  4. 4
    Fatal thrombotic microangiopathy case following adeno-associated viral <i>SMN</i> gene therapy

    Fatal thrombotic microangiopathy case following adeno-associated viral <i>SMN</i> gene therapy per Julia Guillou, Alice de Pellegars, Florence Porcheret, Véronique Frémeaux‐Bacchi, Emma Allain‐Launay, Camille Debord, M. Denis, Yann Péréon, Christine Barnérias, Isabelle Desguerre, G. Roussey, Sandra Mercier

    Publicat 2022
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  5. 5
    Vasculopathy-related clinical and pathological features are associated with severe juvenile dermatomyositis

    Vasculopathy-related clinical and pathological features are associated with severe juvenile dermatomyositis per Cyril Gitiaux, Marie De Antonio, Jessie Aouizerate, Romain K. Gherardi, Thomas Guilbert, Christine Barnérias, Christine Bodemer, Karine Brochard-Payet, Pierre Quartier, Lucile Musset, Bénédicte Chazaud, Isabelle Desguerre, Brigitte Bader‐Meunier

    Publicat 2015
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  6. 6
    A constant and similar assembly defect of mitochondrial respiratory chain complex I allows rapid identification of NDUFS4 mutations in patients with Leigh syndrome

    A constant and similar assembly defect of mitochondrial respiratory chain complex I allows rapid identification of NDUFS4 mutations in patients with Leigh syndrome per Zahra Assouline, Marguerite Jambou, Marlène Rio, Christine Bôle‐Feysot, Pascale de Lonlay, Christine Barnérias, Isabelle Desguerre, C. Bonnemains, C. Guillermet, Julie Steffann, Arnold Münnich, Jean‐Paul Bonnefont, Agnès Rötig, A.S. Lebre

    Publicat 2012
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  7. 7
    MFN2, a new gene responsible for mitochondrial DNA depletion

    MFN2, a new gene responsible for mitochondrial DNA depletion per Florence Renaldo, Patrizia Amati‐Bonneau, Abdelhamid Slama, C. Romaña, V. Forin, Diane Doummar, Christine Barnérias, Joseph Bursztyn, M. Mayer, N. Khouri, Thierry Billette de Villemeur, Lydie Bürglen, Pascal Reynier, A. Gélot, Diana Rodriguez

    Publicat 2012
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  8. 8
    Muscle ischaemia associated with NXP2 autoantibodies: a severe subtype of juvenile dermatomyositis

    Muscle ischaemia associated with NXP2 autoantibodies: a severe subtype of juvenile dermatomyositis per Jessie Aouizerate, Marie De Antonio, Brigitte Bader‐Meunier, Christine Barnérias, Christine Bodemer, Arnaud Isapof, Pierre Quartier, Isabelle Melki, Jean‐Luc Charuel, Guillaume Bassez, Isabelle Desguerre, Romain K. Gherardi, François‐Jérôme Authier, Cyril Gitiaux

    Publicat 2018
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  9. 9
    Myopathologic trajectory in Duchenne muscular dystrophy (DMD) reveals lack of regeneration due to senescence in satellite cells

    Myopathologic trajectory in Duchenne muscular dystrophy (DMD) reveals lack of regeneration due to senescence in satellite cells per Nastasia Cardone, Valentina Taglietti, Serena Baratto, Kaouthar Kefi, Baptiste Periou, Cyril Gitiaux, Christine Barnérias, Peggy Lafuste, France Leturcq Pharm, Juliette Nectoux Pharm, Chiara Panicucci, Isabelle Desguerre, Claudio Bruno, François‐Jérôme Authier, Chiara Fiorillo, Frédéric Relaix, Edoardo Malfatti

    Publicat 2023
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  10. 10
    Mutations in human lipoyltransferase gene LIPT1cause a Leigh disease with secondary deficiency for pyruvate and alpha-ketoglutarate dehydrogenase

    Mutations in human lipoyltransferase gene LIPT1cause a Leigh disease with secondary deficiency for pyruvate and alpha-ketoglutarate dehydrogenase per Yohan Sorèze, Audrey Boutron, Florence Habarou, Christine Barnérias, Luc Nonnenmacher, Hélène Delpech, Asmaa Mamoune, Dominique Chrétien, Laurence Hubert, Christine Bôle‐Feysot, Patrick Nitschké, Isabelle Correia, Claude Sardet, Nathalie Boddaert, Yamina Hamel, Agnès Delahodde, Chris Ottolenghi, Pascale de Lonlay

    Publicat 2013
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  11. 11
    Mutations in the neuronal β-tubulin subunit TUBB3 result in malformation of cortical development and neuronal migration defects

    Mutations in the neuronal β-tubulin subunit TUBB3 result in malformation of cortical development and neuronal migration defects per Karine Poirier, Yoann Saillour, Nadia Bahi‐Buisson, Xavier H. Jaglin, Catherine Fallet‐Bianco, Rima Nabbout, Laëtitia Castelnau-Ptakhine, Agathe Roubertie, Tania Attié‐Bitach, Isabelle Desguerre, David Geneviève, Christine Barnérias, Boris Keren, Nicolas Lebrun, Nathalie Boddaert, Férechté Encha‐Razavi, Jamel Chelly

    Publicat 2010
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  12. 12
    Early-onset Behr syndrome due to compound heterozygous mutations in OPA1

    Early-onset Behr syndrome due to compound heterozygous mutations in OPA1 per Dominique Bonneau, Estelle Colin, Florine Oca, Marc Ferré, Arnaud Chevrollier, Naïg Guéguen, Valérie Desquiret‐Dumas, Sylvie Nguyen, Magalie Barth, Xavier Zanlonghi, Marlène Rio, Isabelle Desguerre, Christine Barnérias, Marta Momtchilova, Diana Rodriguez, Abdelhamid Slama, Guy Lenaers, Vincent Procaccio, Patrizia Amati‐Bonneau, Pascal Reynier

    Publicat 2014
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  13. 13
    Effects of nusinersen after one year of treatment in 123 children with SMA type 1 or 2: a French real-life observational study

    Effects of nusinersen after one year of treatment in 123 children with SMA type 1 or 2: a French real-life observational study per Frédérique Audic, M. Gómez García de la Banda, Delphine Bernoux, Paola Ramirez-Garcia, J. Durigneux, Christine Barnérias, Arnaud Isapof, Jean‐Marie Cuisset, Claude Cancès, Christian Richelme, Carole Vuillerot, Vincent Laugel, Juliette Ropars, Cécilia Altuzarra, Caroline Espil‐Taris, Ulrike Walther‐Louvier, Pascal Sabouraud, Mondher Chouchane, Catherine Vanhulle, Valérie Trommsdorff, Anne Pervillé, Hervé Testard, Emmanuelle Lagrue, Catherine Sarret, Anne-Laude Avice, P. Bèze-Beyrie, Vanessa Pauly, Susana Quijano‐Roy, B. Chabrol, Isabelle Desguerre

    Publicat 2020
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  14. 14
    Detection of interferon alpha protein reveals differential levels and cellular sources in disease

    Detection of interferon alpha protein reveals differential levels and cellular sources in disease per Mathieu P. Rodero, Jérémie Decalf, Vincent Bondet, David Hunt, Gillian Rice, Scott Werneke, Sarah McGlasson, Marie‐Alexandra Alyanakian, Brigitte Bader‐Meunier, Christine Barnérias, N. Bellon, Alexandre Bélot, Christine Bodemer, Tracy A. Briggs, Isabelle Desguerre, Marie‐Louise Frémond, Marie Hully, Arn M. J. M. van den Maagdenberg, Isabelle Melki, Isabelle Meyts, Lucile Musset, Nadine Pelzer, Pierre Quartier, Gisela M. Terwindt, Joanna M. Wardlaw, Stewart Wiseman, Frédéric Rieux‐Laucat, Y Rose, Bénédicte Neven, Christina Hertel, Adrian Hayday, Matthew L. Albert, Flore Rozenberg, Yanick J. Crow, Darragh Duffy

    Publicat 2017
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  15. 15
    Reverse-Transcriptase Inhibitors in the Aicardi–Goutières Syndrome

    Reverse-Transcriptase Inhibitors in the Aicardi–Goutières Syndrome per Gillian Rice, Candice Meyzer, Naïm Bouazza, Marie Hully, Nathalie Boddaert, Michaëla Semeraro, Leo Zeef, Flore Rozenberg, Vincent Bondet, Darragh Duffy, Alba Llibre, Jinmi Baek, Mame N Sambe, Elodie Henry, Valérie Jolaine, Christine Barnérias, Magalie Barth, Alexandre Bélot, Claude Cancès, François‐Guillaume Debray, Diane Doummar, Marie‐Louise Frémond, Naoki Kitabayashi, Alice Lepelley, Virginie Levrat, Isabelle Melki, Pierre Meyer, Marie‐Christine Nouguès, Florence Renaldo, Mathieu P. Rodero, Diana Rodriguez, Agathe Roubertie, Luís Seabra, Carolina Uggenti, Hendy Abdoul, Jean‐Marc Tréluyer, Isabelle Desguerre, Stéphane Blanche, Yanick J. Crow

    Publicat 2018
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  16. 16
    Mutation Update and Genotype-Phenotype Correlations of Novel and Previously Described Mutations in<i>TPM2</i>and<i>TPM3</i>Causing Congenital Myopathies

    Mutation Update and Genotype-Phenotype Correlations of Novel and Previously Described Mutations in<i>TPM2</i>and<i>TPM3</i>Causing Congenital Myopathies per M. Marttila, Vilma‐Lotta Lehtokari, Steven B. Marston, Tuula A. Nyman, Christine Barnérias, Alan H. Beggs, Enrico Bertini, Ozge Ceyhan‐Birsoy, Pascal Cintas, Marion Gérard, Brigitte Gilbert‐Dussardier, Jacob S. Hogue, Cheryl Longman, B. Eymard, Moshe Frydman, Peter B. Kang, Lars Klinge, Hanna Kolski, Hanns Lochmüller, Laurent Magy, Véronique Manel, M. Mayer, Eugenio Mercuri, Kathryn N. North, Sylviane Peudenier-Robert, Helena Pihko, Frank J. Probst, Ricardo Reisin, William Stewart, Ana Lía Taratuto, Marjolein Visser, Ekkehard Wilichowski, J. Winer, Kristen L. Nowak, Nigel G. Laing, Tom Winder, Nicole Monnier, Nigel F. Clarke, Katarina Pelin, Mikaela Grönholm, Carina Wallgren‐Pettersson

    Publicat 2014
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  17. 17
    Association between prophylactic angiotensin-converting enzyme inhibitors and overall survival in Duchenne muscular dystrophy—analysis of registry data

    Association between prophylactic angiotensin-converting enzyme inhibitors and overall survival in Duchenne muscular dystrophy—analysis of registry data per Raphaël Porcher, Isabelle Desguerre, Helge Amthor, B. Chabrol, Frédérique Audic, François Rivier, Arnaud Isapof, V. Tiffreau, Emmanuelle Salort‐Campana, France Leturcq, Sylvie Tuffery‐Giraud, Rabah Ben Yaou, Djillali Annane, Pascal Amédro, Christine Barnérias, Henri Marc Bécane, Anthony Béhin, Damien Bonnet, Guillaume Bassez, Mireille Cossée, Grégoire De La Villeon, Claire Delcourte, Abdallah Fayssoil, Bertand Fontaine, François Godart, Sophie Guillaumont, Emmanuelle Jaillette, Pascal Laforêt, Sarah Léonard-Louis, Frédéric Lofaso, M. Mayer, Raúl Juntas Morales, Christophe Meune, David Orlikowski, Caroline Ovaert, Hélène Prigent, Malika Saadi, Maximilien Sochala, Céline Tard, Guy Vaksmann, Ulrike Walther‐Louvier, B. Eymard, Tanya Stojkovic, Philippe Ravaud, Denis Duboc, Karim Wahbi

    Publicat 2021
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  18. 18
    Assessment of interferon-related biomarkers in Aicardi-Goutières syndrome associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, and ADAR: a case-control study

    Assessment of interferon-related biomarkers in Aicardi-Goutières syndrome associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, and ADAR: a case-control study per Gillian Rice, Gabriella Forte, Marcin Szynkiewicz, Diana Chase, Alec Aeby, Mohamed S. Abdel‐Hamid, Sam Ackroyd, Rebecca Allcock, Kathryn Bailey, Umberto Balottin, Christine Barnérias, Geneviève Bernard, Christine Bodemer, M.P. Botella, Cristina Cereda, Kate Chandler, Lyvia Dabydeen, Russell C. Dale, Corinne De Laet, Christian G E L De Goede, Mireia del Toro, Laila K. Effat, Noemí Núñez Enamorado, Elisa Fazzi, Blanca Gener, Madli Haldre, Jean‐Pierre Lin, John H. Livingston, Charles Marques Lourenço, Wilson Marques, P.J. Oades, Pärt Peterson, Magnhild Rasmussen, Agathe Roubertie, Johanna Schmidt, Stavit A. Shalev, Rogelio Simón, Ronen Spiegel, Kathryn J. Swoboda, Samia A. Temtamy, Grace Vassallo, Catheline Vilain, Julie Vogt, Vanessa Wermenbol, William Whitehouse, Doriette Soler, Ivana Olivieri, Simona Orcesi, Mona Aglan, Maha S. Zaki, Ghada M. H. Abdel‐Salam, Adeline Vanderver, Kai Kisand, Flore Rozenberg, Pierre Lebon, Yanick J. Crow

    Publicat 2013
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  19. 19
    IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients

    IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients per Cyril Mignot, Aoife McMahon, Claire Bar, Philippe M. Campeau, Claire Davidson, Julien Buratti, Caroline Nava, Marie‐Line Jacquemont, Marilyn Tallot, Mathieu Milh, Patrick Edery, Pauline Marzin, Giulia Barcia, Christine Barnérias, Claude Besmond, Thierry Bienvenu, Ange-Line Bruel, Ledia Brunga, Berten Ceulemans, Christine Coubes, Ana G. Cristancho, Fiona Cunningham, Marie-Bertille Dehouck, Elizabeth Donner, Bénédicte Duban‐Bedu, Christèle Dubourg, Elena Gardella, Julie Gauthier, David Geneviève, Stéphanie Gobin‐Limballe, Ethan M. Goldberg, Eveline Hagebeuk, Fadi F. Hamdan, Miroslava Hančárová, Laurence Hubert, Christine Ioos, Shoji Ichikawa, Sandra Janssens, Hubert Journel, Anna Kaminśka, Boris Keren, Marion Koopmans, Caroline Lacoste, Petra Laššuthová, Damien Lederer, Daphné Lehalle, Dragan Marjanović, Julia Métreau, Jacques L Michaud, Kathryn Miller, Berge A. Minassian, Joannella Morales, Marie‐Laure Moutard, Arnold Munnich, Xilma R. Ortiz‐González, Jean-Marc Pinard, Darina Prchalová, Audrey Putoux, Chloé Quēlin, Alyssa Rosen, J. Roume, Elsa Rossignol, Marleen Simon, Thomas Smol, Natasha Shur, Ivan Shelihan, Katalin Štěrbová, Emílie Vyhnálková, Catheline Vilain, Julie Soblet, Guillaume Smits, Samuel Yang, Jasper J. van der Smagt, Peter M. van Hasselt, Marjan van Kempen, Sarah Weckhuysen, Ingo Helbig, Laurent Villard, Delphine Héron, Bobby P.C. Koeleman, Rikke S. Møller, Gaëtan Lesca, Katherine L. Helbig, Rima Nabbout, Nienke E. Verbeek, Christel Depienne

    Publicat 2018
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  20. 20
    Phenotypic spectrum and genomics of undiagnosed arthrogryposis multiplex congenita

    Phenotypic spectrum and genomics of undiagnosed arthrogryposis multiplex congenita per Annie Laquerrière, Dana Jaber, Emanuela Abiusi, Jérôme Maluenda, Dan Mejlachowicz, Alexandre Vivanti, Klaus Dieterich, Radka Stoeva, Loïc Quevarec, Flora Nolent, Valérie Biancalana, Philippe Latour, Damien Sternberg, Yline Capri, Alain Verloès, Bettina Bessières, Laurence Lœuillet, Tania Attié‐Bitach, Jéléna Martinovic, Sophie Blesson, Florence Petit, Claire Bénéteau, Sandra Whalen, Florent Marguet, Jérôme Bouligand, Delphine Héron, Géraldine Viot, Jeanne Amiel, Daniel Amram, Céline Bellesme, Martine Bucourt, Laurence Faivre, Pierre‐Simon Jouk, Suonavy Khung, Sabine Sigaudy, Anne‐Lise Delezoide, Alice Goldenberg, Marie‐Line Jacquemont, Laëtitia Lambert, Valérie Layet, Stanislas Lyonnet, Arnold Münnich, Lionel Van Maldergem, Juliette Piard, Fabien Guimiot, P. Landrieu, Pascaline Létard, Fanny Pelluard, Laurence Perrin, Marie‐Hélène Saint‐Frison, Haluk Topaloğlu, Laetitia Trestard, Catherine Vincent‐Delorme, Helge Amthor, Christine Barnérias, Alexandra Benachi, Éric Bieth, Elise Boucher, Valérie Cormier‐Daire, Andrée Delahaye‐Duriez, Isabelle Desguerre, B. Eymard, Christine Francannet, Sarah Grotto, Didier Lacombe, Fanny Laffargue, Marine Legendre, Dominique Martin–Coignard, André Mégarbané, Sandra Mercier, Mathilde Nizon, Luc Rigonnot, Fabienne Prieur, Chloé Quēlin, Hanitra Ranjatoelina-Randrianaivo, Nicoletta Resta, Annick Toutain, Hélène Verhelst, Marie Vincent, Estelle Colin, Catherine Fallet‐Bianco, Michèle Granier, R Grigorescu, Julien Saada, Marie Gonzalès, Anne Guiochon‐Mantel, Jean‐Louis Bessereau, Marcel Tawk, Marta Gut, Cyril Gitiaux, Judith Melki

    Publicat 2021
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